Description:- Test is based on Next Generation Sequencing and uses Massive Parallel sequencing to identify mutations and Gene Variants at a very short time. Sequencing provides 150X resolution of Clinical Exome Data coverage, based on Clinical Variant Database of Indian Population.

What is clinical Exome?

Clinical Exome analysis investigates any complex health and developmental problem that is suspected to have a genetic cause in the patient. The clinical exome is used to seek answers for individuals where other testing has failed to determine a cause of their health problems like MRI, CT scan, Biopsy etc. The Clinical Exome is used by many specialist groups, like neurologists and geneticists, to investigate specific causes of well-known but poorly understood conditions (like brain malformations or rare and complex genetic disorders).

Genetic variants fall into three categories:

Pathogenic variants – these are known to cause specific genetic conditions.

Benign variants – are unlikely to cause genetic conditions.

Variants of unknown significance – there is no clear evidence about whether these are pathogenic or benign. These class of variants often require family studies to help determine their clinical significance.

How does it work?

The Clinical Exome uses a whole exome sequencing to capture gene variants which is followed by phenotype driven curation to look for any variant/s or mutation/s within genes that are most likely to be associated with a person’s or Patient’s health problems.

Our multidisciplinary team, which is comprised of clinical geneticists, genetic counsellors, bioinformaticians, scientists who specialize in genomics, and medical specialists, then access all the latest information from the scientific literature and clinical databases to determine which variants might be the cause of an individual’s condition.

If no causative or likely causative variant is found within the genes associated with the phenotype provided, there are options of expanding the investigation.

This may involve looking at the Mendeliome, which describes the around 4,000 genes that are known to cause a Mendelian disorder/s. Providing a detailed description of the patient's phenotype is an integral component of exome analysis and DNA Labs India has shown that this targeted approach results in consistently high detection rates.